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Pathology General 8611c3b7

Defective phagolysosome formation is a feature of ___________.

A
Chronic granulomatus disease
B
Chediak-Higashi syndrome
C
Fanconi Anemia
D
Ataxia telangiectasia
High-Yield Explanation
Chediak-Higashi  syndrom: Chediak-Higashi  syndrome  is  characterized  by  defective fusion of phagosomes and lysosomes, resulting in defective phagocyte function and susceptibility to infections.  The  main  leukocyte  abnormalities  are  neutropenia, defective degranulation, and delayed microbial killing.  The  affected  leukocytes  contain  giant  granules,  which are  readily  seen  in  peripheral  blood  smears  and  are thought to result from aberrant phagolysosome fusion. In  addition,  there  are  abnormalities  in  melanocytes (leading to albinism), cells of the nervous system (associated with nerve defects), and platelets (causing bleeding disorders) The gene associated with this disorder encodes a large cytosolic protein called LYST, which is believed to regulate lysosomal trafficking. Reference-Robbins BASIC PATHOLOGY 10th edition pg-172

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